Variant report

Variant	rs6757248
Chromosome Location	chr2:190330381-190330382
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190327296..190331377-chr2:190333062..190337017,6	K562	blood:
2	chr2:190326954..190329063-chr2:190329127..190332926,3	K562	blood:
3	chr2:190312541..190316389-chr2:190328485..190332647,5	K562	blood:
4	chr2:190326762..190328436-chr2:190329666..190332639,2	MCF-7	breast:
5	chr2:190305756..190307706-chr2:190328939..190331927,2	K562	blood:
6	chr2:190329744..190331278-chr2:190334117..190337017,2	K562	blood:
7	chr2:190324833..190326701-chr2:190329716..190331695,2	K562	blood:
8	chr2:190319724..190322285-chr2:190329459..190331222,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10165458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10169961	1.00[AMR][1000 genomes]
rs10174921	1.00[YRI][hapmap]
rs10176299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180374	1.00[AMR][1000 genomes]
rs10200629	1.00[YRI][hapmap]
rs10202436	1.00[YRI][hapmap]
rs10202723	1.00[YRI][hapmap]
rs10205215	1.00[YRI][hapmap]
rs10207870	1.00[AMR][1000 genomes]
rs13395385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398414	1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401036	1.00[AMR][1000 genomes]
rs13403213	1.00[AMR][1000 genomes]
rs13407452	1.00[YRI][hapmap]
rs13411962	1.00[AMR][1000 genomes]
rs13419394	1.00[AMR][1000 genomes]
rs13424504	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13429628	1.00[YRI][hapmap]
rs28475172	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721230	1.00[YRI][hapmap]
rs6732228	1.00[AMR][1000 genomes]
rs6760660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73045800	1.00[AMR][1000 genomes]
rs73047715	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
2	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
4	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
5	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
7	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
8	chr2:190308000-190334600	Weak transcription	Right Ventricle	heart
9	chr2:190308200-190342800	Strong transcription	A549	lung
10	chr2:190308600-190341800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:190308600-190342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:190309000-190342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:190309200-190341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:190309400-190337200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:190309600-190341800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:190309600-190342000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:190309800-190337000	Strong transcription	Primary B cells from cord blood	blood
18	chr2:190309800-190342400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:190310200-190340600	Strong transcription	Dnd41	blood
20	chr2:190310200-190341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:190310400-190341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:190310800-190342000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:190310800-190342000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:190311000-190340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:190311000-190341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:190311000-190341800	Strong transcription	NH-A	brain
27	chr2:190311200-190341800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:190311600-190341800	Strong transcription	HMEC	breast
29	chr2:190311800-190341400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:190311800-190342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:190312000-190341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:190312200-190335600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:190312200-190336400	Strong transcription	Placenta	Placenta
34	chr2:190312200-190339600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:190312200-190341200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:190312200-190341400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:190312200-190341400	Strong transcription	Osteobl	bone
38	chr2:190312200-190342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:190312600-190341200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:190312800-190330800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:190312800-190331600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:190312800-190331800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:190312800-190336400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:190312800-190342600	Strong transcription	Fetal Thymus	thymus
45	chr2:190313000-190335600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:190313000-190337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:190313000-190340400	Strong transcription	HepG2	liver
48	chr2:190313000-190342800	Strong transcription	HSMM	muscle
49	chr2:190313200-190331000	Strong transcription	Adipose Nuclei	Adipose
50	chr2:190313200-190339400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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